POC1A

Cilia effects upon perturbation of POC1A

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.17) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

decreased fasting circulating glucose level, increased urine microalbumin level, preweaning lethality, incomplete penetrance

Mouse ciliopathy phenotype:

male infertility, female infertility

Ciliopathy associations

• SOFT Syndrome

Subcellular localization

basal body, centrosome

Functional category

• Ciliary assembly/disassembly

Function

Stable component of centrioles that and plays a role in their formation and mainte nce. Mutations cause ciliogenesis defects and impared mitosis, as well as primordial dwarfism (26336158, 23015594, 22840364).